Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 14105 | chr7 | 99004275 | G | C |
c.10395G>C
|
p.Lys3465Asn
|
- | 3.0 |
|
B | |
| 9621 | chr7 | 99004374 | T | A |
c.10494T>A
|
p.Phe3498Leu
|
- | 3.0 |
|
B | |
| 2547 | chr7 | 99005142 | G | A |
c.10547G>A
|
p.Arg3516Gln
|
3.0 |
|
B | ||
| 9667 | chr7 | 99005180 | C | G |
c.10585C>G
|
p.Arg3529Gly
|
- | 3.0 |
|
B | |
| 31129 | chr7 | 99008393 | A | AGT |
c.10771_10772dup
|
p.Ser3592PhefsTer102
|
- | 3.0 |
|
B | |
| 14847 | chr7 | 99008437 | T | A |
c.10814T>A
|
p.Leu3605His
|
- | 3.0 |
|
B | |
| 1776 | chr7 | 99011342 | A | G |
c.11144A>G
|
p.Asp3715Gly
|
- | 3.0 |
|
B | |
| 2360 | chr7 | 99011513 | G | A |
c.11315G>A
|
p.Cys3772Tyr
|
- | 3.0 |
|
B | |
| 20340 | chr7 | 99012137 | G | A |
c.11404G>A
|
p.Asp3802Asn
|
- | 3.0 |
|
B | |
| 14266 | chr7 | 99650062 | AGT | A |
c.1413+9_1413+10del
|
-
|
- | 3.0 |
|
B | |
| 21575 | chr7 | 99650234 | T | A |
c.1254-2A>T
|
p.?
|
- | 3.0 |
|
B | |
| 30897 | chr7 | 99652640 | G | A |
c.1166C>T
|
p.Pro389Leu
|
- | 3.0 |
|
B | |
| 21685 | chr7 | 99652658 | AT | A |
c.1147del
|
p.Ile383SerfsTer13
|
- | 3.0 |
|
B | |
| 17453 | chr7 | 99664004 | G | T |
c.762C>A
|
p.Asn254Lys
|
- | 3.0 |
|
B | |
| 6326 | chr7 | 99665212 | C | A |
c.624G>T
|
p.Lys208Asn
|
- | 3.0 |
|
B | |
| 33257 | chr7 | 99665274 | A | C |
c.562T>G
|
p.Ser188Ala
|
- | 3.0 |
|
B | |
| 33258 | chr7 | 99665318 | A | T |
c.522-4T>A
|
-
|
- | 3.0 |
|
B | |
| 25096 | chr7 | 99667003 | C | G |
c.381G>C
|
p.Lys127Asn
|
- | 3.0 |
|
B | |
| 25946 | chr7 | 99672638 | G | A |
c.260C>T
|
p.Pro87Leu
|
- | 3.0 |
|
B | |
| 7284 | chr7 | 99674545 | C | G |
c.206G>C
|
p.Gly69Ala
|
- | 3.0 |
|
B |